Clinical and genetic study in a patient with muscle phosphofructokinase deficiency

被引:0
|
作者
Musumeci, O
Rodolico, C
Bruno, C
Aguennouz, M
Cassandrini, D
Vita, G
Toscano, A
机构
[1] Univ Messina, Messina, Italy
[2] G Gaslini Inst Children, Genoa, Italy
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:83 / 83
页数:1
相关论文
共 50 条
  • [1] Clinical, biochemical and genetic features in muscle phosphofructokinase deficiency
    Musumeci, Olimpia
    Bruno, Claudio
    Mongini, Tiziana
    Rodolico, Carmelo
    Aguennouz, Mohammed
    Amati, Angela
    Ciranni, Anna
    Lanzano, Natalia
    Serlenga, Luigi
    Palmucci, Laura
    Vita, Giuseppe
    Toscano, Antonio
    NEUROLOGY, 2007, 68 (12) : A296 - A297
  • [2] Clinical and genetic characterization in two families with muscle phosphofructokinase deficiency
    Musumeci, Olimpia
    Bruno, Claudio
    Rodolico, Carmelo
    Cassandrini, Denise
    Aguennouz, Mohammed
    Serlenga, Luigi
    Zoccolella, Stefano
    Ciranni, Anna
    Amati, Angela
    Vita, Giuseppe
    Toscano, Antonio
    NEUROMUSCULAR DISORDERS, 2006, 16 : S136 - S136
  • [3] Muscle phosphofructokinase deficiency
    Massa, R
    Sancesario, G
    Bernardi, G
    NEUROLOGY, 1997, 49 (03) : 899 - 899
  • [4] MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY
    TOBIN, WE
    HUIJING, F
    PORRO, RS
    SALZMAN, RT
    ARCHIVES OF NEUROLOGY, 1973, 28 (02) : 128 - 130
  • [5] MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY
    LAYZER, RB
    ROWLAND, LP
    RANNEY, HM
    ARCHIVES OF NEUROLOGY, 1967, 17 (05) : 512 - +
  • [6] Sickle cells in a muscle biopsy of a patient with phosphofructokinase deficiency.
    Ahmed, S
    Melchionna, E
    Nunnemacher, G
    Moral, LA
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2000, 59 (05): : 427 - 427
  • [7] MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY - BIOCHEMICAL AND IMMUNOLOGICAL STUDIES OF PHOSPHOFRUCTOKINASE ISOZYMES IN MUSCLE CULTURE
    DAVIDSON, M
    MIRANDA, AF
    BENDER, AN
    DIMAURO, S
    VORA, S
    JOURNAL OF CLINICAL INVESTIGATION, 1983, 72 (02): : 545 - 550
  • [8] ISOENZYME BASIS OF MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY
    LAYZER, RB
    NEUROLOGY, 1971, 21 (04) : 443 - &
  • [9] CITATION CLASSIC + MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY
    LAYZER, RB
    CURRENT CONTENTS/CLINICAL PRACTICE, 1984, (48): : 22 - 22
  • [10] Muscle phosphofructokinase deficiency in two generations
    Vorgerd, M
    Karitzky, J
    Ristow, M
    VanSchaftingen, E
    Tegenthoff, M
    Jerusalem, F
    Malin, JP
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 1996, 141 (1-2) : 95 - 99